ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.396T>C (p.Ser132=)

gnomAD frequency: 0.00085  dbSNP: rs149264789
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003103796 SCV000601193 likely benign not provided 2023-06-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103796 SCV000603866 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834633 SCV002093864 uncertain significance alpha Thalassemia 2017-08-09 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003979906 SCV004787992 likely benign HBA1-related disorder 2024-07-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.